{"Name":"Hypothalamic hamartomas with gelastic seizures","DiseaseID__c":"GARD:0019084","id":19084,"encodedName":"hypothalamic-hamartomas-with-gelastic-seizures","IsDeleted":false,"Disease_Name_Full__c":"Hypothalamic hamartomas with gelastic seizures","Xref_IDs__c":"C4707883; MEDGEN:1642420; MONDO:0019484; ORPHA:86906","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019484","Disease_Description__c":"Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.","GARD_Name__c":"Hypothalamic hamartomas with gelastic seizures","GARD_Synonym__c":"gelastic seizures with hypothalamic hamartoma; gs-hh - gelastic seizures with hypothalamic hamartoma; hypothalamic hamartoma with gelastic seizure","Curated_Disease_Description_Source__c":"MONDO:0019484","Curated_Disease_Description__c":"Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:86906","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019484","ORPHANET_ID__c":"ORPHA:86906","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Crisis gelásticas con hamartoma hipotalámico","Spanish_Description_Source__c":"ORPHA:86906","Spanish_Description__c":"Son una malformación cerebral poco frecuente con síndrome de epilepsia caracterizado por crisis de inicio temprano gelásticas (risa ictal) o dacrísticas (llanto ictal) debido a hamartomas hipotálamicos malformativos no neoplásicos . En muchos pacientes las crisis progresan a otros tipos de crisis, incluyendo crisis focales y generalizadas, con deterioro cognitivo concomitante y trastornos de conducta. Algunos pacientes también presentan pubertad precoz.","Spanish_Disease_Name__c":"crisis gelásticas con hamartoma hipotalámico","Spanish_GARD_Synonym__c":"hamartoma hipotalámico con crisis gelásticas","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.","Curated_Disease_Description_Source__c":"MONDO:0019484","GARD_Synonym__c":"gelastic seizures with hypothalamic hamartoma; gs-hh - gelastic seizures with hypothalamic hamartoma; hypothalamic hamartoma with gelastic seizure","Name":"Hypothalamic hamartomas with gelastic seizures","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hope for Hypothalamic Hamartomas","Website__c":"https://www.hopeforhh.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1642420","Source__c":"C4707883","Xref__c":"MEDGEN:1642420"},{"URL__c":"https://www.orpha.net/en/disease/detail/86906","Source__c":"C4707883; MONDO:0019484; ORPHA:86906","Xref__c":"ORPHA:86906"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707883","Source__c":"C4707883","Xref__c":"C4707883"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019484","Source__c":"GARD:0019084","Xref__c":"MONDO:0019484"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766932005","Source__c":"C4707883","Xref__c":"766932005"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy"],"Account":["Epilepsy"]},"synonyms":["gelastic seizures with hypothalamic hamartoma"," gs-hh - gelastic seizures with hypothalamic hamartoma"," hypothalamic hamartoma with gelastic seizure"]}